ENST00000314666.11 PFAS

Information
Transcript ID
ENST00000314666.11
Genome
hg38
Position
chr17:8,249,289-8,270,486
Strand
+
CDS length
4,017
Amino acid length
1,339
Gene symbol
PFAS
Gene type
protein-coding
Gene description
phosphoribosylformylglycinamidine synthase
Gene Entrez Gene ID
5198
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 8,249,289 8,249,339
2 8,253,859 8,254,079
3 8,254,166 8,254,301
4 8,255,027 8,255,132
5 8,255,502 8,255,691
6 8,255,805 8,255,910
7 8,256,267 8,256,407
8 8,256,524 8,256,648
9 8,256,835 8,256,963
10 8,257,807 8,257,938
11 8,258,071 8,258,199
12 8,262,920 8,262,993
13 8,263,109 8,263,265
14 8,263,575 8,263,636
15 8,263,775 8,263,936
16 8,264,212 8,264,337
17 8,264,470 8,264,601
18 8,264,895 8,265,125
19 8,265,288 8,265,468
20 8,265,556 8,265,639
21 8,265,862 8,266,017
22 8,266,234 8,266,353
23 8,266,753 8,266,898
24 8,267,028 8,267,235
25 8,267,372 8,267,463
26 8,267,551 8,267,665
27 8,268,533 8,268,856
28 8,268,954 8,270,486
CDS
Exon number Type Start Stop
2 CDS 8,253,938 8,254,079
3 CDS 8,254,166 8,254,301
4 CDS 8,255,027 8,255,132
5 CDS 8,255,502 8,255,691
6 CDS 8,255,805 8,255,910
7 CDS 8,256,267 8,256,407
8 CDS 8,256,524 8,256,648
9 CDS 8,256,835 8,256,963
10 CDS 8,257,807 8,257,938
11 CDS 8,258,071 8,258,199
12 CDS 8,262,920 8,262,993
13 CDS 8,263,109 8,263,265
14 CDS 8,263,575 8,263,636
15 CDS 8,263,775 8,263,936
16 CDS 8,264,212 8,264,337
17 CDS 8,264,470 8,264,601
18 CDS 8,264,895 8,265,125
19 CDS 8,265,288 8,265,468
20 CDS 8,265,556 8,265,639
21 CDS 8,265,862 8,266,017
22 CDS 8,266,234 8,266,353
23 CDS 8,266,753 8,266,898
24 CDS 8,267,028 8,267,235
25 CDS 8,267,372 8,267,463
26 CDS 8,267,551 8,267,665
27 CDS 8,268,533 8,268,856
28 CDS 8,268,954 8,269,264
Other genome
Genome Chromosome Start End Links
hg19 chr17 8,152,607 8,173,804 Link
CDS sequence
ATGTCCCCAGTCCTTCACTTCTATGTTCGTCCCTCTGGCCATGAGGGGGCAGCCCCTGGACACACTCGGAGGAAACTGCAAGGGAAACTGCCAGAGCTGCAGGGCGTCGAGACTGAACTGTGCTACAACGTGAACTGGACAGCTGAGGCCCTCCCCAGTGCTGAGGAGACAAAGAAGCTGATGTGGCTGTTTGGTTGCCCCTTACTGCTGGATGATGTTGCTCGGGAGTCCTGGCTCCTTCCTGGCTCCAATGACCTGCTGCTGGAGGTCGGGCCCAGGCTGAACTTCTCCACCCCAACATCCACCAACATCGTGTCAGTGTGCCGCGCCACTGGGCTGGGGCCTGTGGATCGTGTGGAGACCACCCGGCGCTACCGGCTCTCGTTTGCCCACCCCCCGTCAGCTGAGGTGGAAGCCATTGCTCTGGCTACCCTGCACGACCGGATGACAGAGCAGCACTTCCCCCATCCCATCCAGAGTTTCTCCCCTGAGAGCATGCCGGAACCCCTCAATGGCCCTATCAATATACTGGGTGAGGGCCGGCTTGCGCTGGAGAAGGCCAACCAGGAGCTTGGTCTGGCTTTAGACTCTTGGGACCTAGACTTCTACACCAAGCGCTTCCAGGAGCTACAGCGGAACCCGAGCACTGTGGAGGCCTTTGACTTGGCGCAGTCCAATAGCGAGCACAGCCGACACTGGTTCTTCAAGGGCCAGCTCCACGTGGATGGGCAGAAGCTGGTGCACTCACTGTTTGAGTCCATCATGAGCACCCAGGAATCCTCGAACCCCAACAACGTCCTCAAATTCTGTGATAACAGCAGTGCAATCCAGGGAAAGGAAGTCCGATTCCTACGGCCTGAGGACCCCACACGGCCAAGCCGCTTCCAGCAACAGCAAGGGCTGAGACATGTTGTCTTCACAGCAGAGACTCACAACTTTCCCACAGGAGTATGCCCCTTTAGTGGTGCAACCACTGGCACAGGGGGCCGGATTCGAGATGTCCAGTGCACAGGCCGCGGGGCCCACGTGGTGGCTGGCACTGCCGGCTATTGCTTTGGAAATCTGCATATTCCAGGTTACAATCTGCCCTGGGAGGATCCAAGCTTCCAGTATCCTGGGAATTTTGCCCGGCCCCTGGAGGTTGCCATTGAAGCCAGTAATGGAGCTTCTGACTATGGCAACAAGTTTGGGGAACCAGTGCTGGCTGGCTTCGCCCGCTCCTTGGGCCTCCAGCTCCCAGACGGCCAGCGGCGTGAGTGGATCAAGCCCATCATGTTTAGTGGGGGCATTGGGTCCATGGAAGCTGACCACATAAGCAAGGAGGCCCCAGAGCCAGGCATGGAAGTTGTAAAGGTTGGAGGTCCCGTCTACAGGATTGGAGTTGGAGGTGGAGCTGCTTCATCTGTGCAGGTGCAGGGAGATAACACCAGTGACCTGGACTTTGGGGCTGTGCAGCGAGGAGACCCGGAGATGGAACAGAAGATGAACCGTGTGATCAGGGCTTGTGTGGAGGCCCCCAAGGGAAACCCCATCTGCAGCCTTCATGATCAGGGCGCTGGTGGCAATGGCAATGTCCTAAAAGAGCTGAGTGACCCAGCTGGAGCCATCATTTACACCAGCCGCTTCCAGCTTGGGGACCCAACCCTGAATGCCCTGGAAATCTGGGGGGCTGAGTACCAGGAATCAAATGCTCTTCTGCTGAGGTCCCCCAACCGGGACTTCCTGACTCATGTCAGTGCCCGTGAACGTTGCCCGGCTTGCTTCGTGGGCACCATCACTGGAGACCGGAGAATAGTGCTGGTGGACGATCGGGAGTGTCCTGTCAGAAGAAATGGCCAGGGGGATGCCCCCCCGACACCCCTGCCAACCCCTGTGGACCTGGAGCTCGAATGGGTGCTGGGCAAGATGCCTCGGAAGGAGTTCTTCCTGCAGAGGAAGCCCCCCATGCTGCAGCCTCTGGCCTTGCCCCCAGGGCTGAGCGTGCACCAGGCTCTGGAGAGGGTTCTGAGGCTGCCCGCCGTGGCCAGCAAGCGCTACCTCACCAATAAGGTGGACCGCTCTGTGGGAGGCCTGGTGGCCCAGCAGCAGTGCGTGGGGCCCCTGCAAACTCCTCTGGCAGATGTAGCGGTTGTGGCACTGAGCCATGAGGAGCTCATAGGGGCTGCCACAGCCTTGGGAGAACAGCCAGTCAAGAGCCTGCTGGACCCAAAAGTCGCCGCCCGGCTGGCCGTGGCCGAAGCCCTCACCAACCTGGTGTTTGCTCTGGTCACTGACCTCCGGGATGTGAAGTGTAGCGGGAACTGGATGTGGGCAGCCAAGCTCCCAGGGGAGGGCGCAGCTTTGGCGGATGCCTGTGAGGCTATGGTGGCAGTGATGGCAGCCCTGGGTGTGGCAGTGGATGGTGGCAAGGACTCCCTCAGCATGGCTGCTCGGGTTGGCACTGAGACCGTGCGGGCTCCTGGGTCACTGGTCATCTCAGCCTATGCCGTCTGCCCAGACATCACAGCCACTGTGACCCCAGACCTCAAGCATCCTGAAGGGAGAGGCCATCTGCTCTATGTGGCTCTGAGCCCTGGGCAGCACCGGCTCGGGGGCACAGCTCTGGCCCAGTGCTTCTCCCAGCTTGGGGAACACCCTCCAGACCTGGACCTTCCTGAGAACTTGGTGCGGGCCTTCAGCATCACTCAGGGGCTGCTGAAAGACCGCCTCCTCTGCTCAGGCCACGATGTCAGTGACGGAGGCCTCGTCACATGCCTGCTGGAGATGGCCTTTGCTGGAAATTGCGGGCTACAGGTGGATGTGCCTGTCCCCAGGGTTGATGTCCTGTCTGTGCTGTTCGCTGAGGAGCCAGGCCTCGTGCTGGAGGTGCAGGAGCCAGACCTGGCCCAGGTGCTGAAGCGTTACCGGGATGCTGGCCTCCATTGCCTGGAGCTGGGCCACACAGGCGAGGCCGGGCCCCACGCCATGGTCCGGGTGTCAGTGAACGGGGCTGTGGTTCTGGAGGAGCCTGTTGGGGAGCTGCGAGCCCTCTGGGAGGAGACGAGTTTCCAGCTGGACCGGCTACAGGCAGAGCCTCGCTGTGTGGCAGAGGAGGAACGGGGCCTGAGGGAGCGGATGGGGCCCAGCTATTGCCTGCCCCCCACCTTTCCCAAAGCCTCCGTGCCCCGTGAGCCTGGTGGTCCCAGCCCCCGAGTCGCCATCTTGCGAGAGGAGGGCAGTAATGGAGACCGGGAGATGGCCGATGCCTTCCACTTAGCTGGGTTTGAGGTATGGGACGTGACCATGCAGGACCTCTGCTCTGGGGCAATTGGGCTGGACACTTTCCGTGGCGTGGCCTTCGTGGGCGGCTTCAGCTATGCAGATGTCCTGGGCTCTGCCAAAGGGTGGGCAGCTGCTGTGACCTTTCATCCCAGGGCTGGGGCTGAGCTGAGGCGCTTCCGGAAGCGGCCAGACACCTTCAGCCTGGGCGTGTGTAATGGCTGTCAACTGCTGGCTCTGCTCGGCTGGGTGGGAGGCGACCCCAATGAGGATGCTGCAGAGATGGGCCCTGACTCCCAGCCAGCCCGGCCAGGCCTTCTGCTACGCCACAACCTGTCTGGGCGCTACGAGTCTCGCTGGGCCAGCGTGCGTGTGGGGCCTGGGCCAGCCCTGATGCTGCGAGGGATGGAGGGCGCCGTGCTGCCCGTGTGGAGTGCGCACGGGGAAGGTTACGTAGCATTTTCTTCTCCGGAACTCCAAGCTCAGATTGAGGCCAGGGGCTTGGCTCCACTGCACTGGGCTGATGATGACGGGAACCCCACAGAGCAGTACCCTCTGAATCCCAATGGGTCCCCAGGGGGCGTGGCTGGCATCTGCTCCTGTGATGGCCGCCACCTGGCTGTCATGCCTCACCCTGAGCGGGCCGTTAGGCCTTGGCAGTGGGCATGGCGACCCCCTCCATTTGATACTCTGACCACCTCCCCCTGGCTCCAGCTCTTTATCAATGCCCGAAACTGGACCCTGGAAGGGAGCTGCTGA
Amino sequence
MSPVLHFYVRPSGHEGAAPGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKLMWLFGCPLLLDDVARESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVETTRRYRLSFAHPPSAEVEAIALATLHDRMTEQHFPHPIQSFSPESMPEPLNGPINILGEGRLALEKANQELGLALDSWDLDFYTKRFQELQRNPSTVEAFDLAQSNSEHSRHWFFKGQLHVDGQKLVHSLFESIMSTQESSNPNNVLKFCDNSSAIQGKEVRFLRPEDPTRPSRFQQQQGLRHVVFTAETHNFPTGVCPFSGATTGTGGRIRDVQCTGRGAHVVAGTAGYCFGNLHIPGYNLPWEDPSFQYPGNFARPLEVAIEASNGASDYGNKFGEPVLAGFARSLGLQLPDGQRREWIKPIMFSGGIGSMEADHISKEAPEPGMEVVKVGGPVYRIGVGGGAASSVQVQGDNTSDLDFGAVQRGDPEMEQKMNRVIRACVEAPKGNPICSLHDQGAGGNGNVLKELSDPAGAIIYTSRFQLGDPTLNALEIWGAEYQESNALLLRSPNRDFLTHVSARERCPACFVGTITGDRRIVLVDDRECPVRRNGQGDAPPTPLPTPVDLELEWVLGKMPRKEFFLQRKPPMLQPLALPPGLSVHQALERVLRLPAVASKRYLTNKVDRSVGGLVAQQQCVGPLQTPLADVAVVALSHEELIGAATALGEQPVKSLLDPKVAARLAVAEALTNLVFALVTDLRDVKCSGNWMWAAKLPGEGAALADACEAMVAVMAALGVAVDGGKDSLSMAARVGTETVRAPGSLVISAYAVCPDITATVTPDLKHPEGRGHLLYVALSPGQHRLGGTALAQCFSQLGEHPPDLDLPENLVRAFSITQGLLKDRLLCSGHDVSDGGLVTCLLEMAFAGNCGLQVDVPVPRVDVLSVLFAEEPGLVLEVQEPDLAQVLKRYRDAGLHCLELGHTGEAGPHAMVRVSVNGAVVLEEPVGELRALWEETSFQLDRLQAEPRCVAEEERGLRERMGPSYCLPPTFPKASVPREPGGPSPRVAILREEGSNGDREMADAFHLAGFEVWDVTMQDLCSGAIGLDTFRGVAFVGGFSYADVLGSAKGWAAAVTFHPRAGAELRRFRKRPDTFSLGVCNGCQLLALLGWVGGDPNEDAAEMGPDSQPARPGLLLRHNLSGRYESRWASVRVGPGPALMLRGMEGAVLPVWSAHGEGYVAFSSPELQAQIEARGLAPLHWADDDGNPTEQYPLNPNGSPGGVAGICSCDGRHLAVMPHPERAVRPWQWAWRPPPFDTLTTSPWLQLFINARNWTLEGSC*